Miscellaneous Metabolic Disorders
Gene: ACY1
Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Sources: NHS GMSCreated: 22 Jan 2021, 5:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aminoacylase 1 deficiency MIM#609924
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ACY1 were changed from Aminoacylase 1 deficiency MIM#609924 to Aminoacylase 1 deficiency MIM#609924; disorder of amino acid metabolism
Gene: acy1 has been classified as Green List (High Evidence).
Gene: acy1 has been classified as Green List (High Evidence).
gene: ACY1 was added gene: ACY1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 16465618; 17562838; 24117009 Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency MIM#609924 Review for gene: ACY1 was set to GREEN gene: ACY1 was marked as current diagnostic